Ataxia UK has recently funded a new project looking at the molecular mechanisms behind Spinocerebellar Ataxia Type-2 (SCA2). The project will be led by Prof Jørgen Erik Nielsen at University Hospital Copenhagen.
SCA2 is caused by a specific genetic change, but the precise mechanisms by which this change leads to brain cell degeneration remain unclear.
To investigate this genetic form of ataxia, the researchers are using 3D brain tissue models called cerebellar organoids. These organoids are developed from skin cells of SCA2 patients, which are reprogrammed into stem cells and then turned into brain-like tissue.
This method provides a unique opportunity to study affected brain cells without the need for invasive procedures to obtain brain tissue samples from patients. It allows researchers to see early changes in brain cells long before symptoms appear – something impossible to study in living patients.
This project is due to begin in January 2026.
Read more here:
Investigating The Molecular Mechanisms of SCA2 Using 3D Cerebellar Organoids and Multi-Omics Approaches: A Platform for Advancing Ataxia Research - Ataxia UK